Jonah D Klein1, Michael E Kupferman2. 1. Department of Surgery, Main Line Health, Bryn Mawr, Pennsylvania. 2. Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Abstract
BACKGROUND: Li-Fraumeni syndrome (LFS) is a familial cancer predisposition associated with a germline mutation in TP53. Patients with LFS are at risk of developing malignancies and require comprehensive screening. We describe an index case of LFS presenting with mucosal melanoma. METHODS: A 21-year-old woman presented with a left maxillary mucosal lesion and a left neck mass. Biopsies revealed metastatic mucosal melanoma, which is a pathology previously unreported in LFS families. Genetic testing revealed LFS, with a germline TP53 mutation, and pedigree analysis identified 9 first-degree and second-degree relatives with hematologic malignancies. RESULTS: The patient underwent a maxillectomy and left neck dissection, followed by adjuvant radiotherapy. At 30-month follow-up, there was no evidence of local, regional, or distant failure, nor did she develop a second primary tumor. CONCLUSION: This represents the first reported case of LFS associated with mucosal melanoma. Treatment considerations, specifically the risks of adjuvant therapy in LFS, are discussed.
BACKGROUND:Li-Fraumeni syndrome (LFS) is a familial cancer predisposition associated with a germline mutation in TP53. Patients with LFS are at risk of developing malignancies and require comprehensive screening. We describe an index case of LFS presenting with mucosal melanoma. METHODS: A 21-year-old woman presented with a left maxillary mucosal lesion and a left neck mass. Biopsies revealed metastatic mucosal melanoma, which is a pathology previously unreported in LFS families. Genetic testing revealed LFS, with a germline TP53 mutation, and pedigree analysis identified 9 first-degree and second-degree relatives with hematologic malignancies. RESULTS: The patient underwent a maxillectomy and left neck dissection, followed by adjuvant radiotherapy. At 30-month follow-up, there was no evidence of local, regional, or distant failure, nor did she develop a second primary tumor. CONCLUSION: This represents the first reported case of LFS associated with mucosal melanoma. Treatment considerations, specifically the risks of adjuvant therapy in LFS, are discussed.
Authors: Nikola Hajkova; Jan Hojny; Kristyna Nemejcova; Pavel Dundr; Jan Ulrych; Katerina Jirsova; Johana Glezgova; Ivana Ticha Journal: Sci Rep Date: 2018-05-16 Impact factor: 4.379
Authors: Kim Wong; Louise van der Weyden; Courtney R Schott; Alastair Foote; Fernando Constantino-Casas; Sionagh Smith; Jane M Dobson; Elizabeth P Murchison; Hong Wu; Iwei Yeh; Douglas R Fullen; Nancy Joseph; Boris C Bastian; Rajiv M Patel; Inigo Martincorena; Carla Daniela Robles-Espinoza; Vivek Iyer; Marieke L Kuijjer; Mark J Arends; Thomas Brenn; Paul W Harms; Geoffrey A Wood; David J Adams Journal: Nat Commun Date: 2019-01-21 Impact factor: 14.919